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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   optic neuritis
  

Disease ID 957
Disease optic neuritis
Definition
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
Synonym
neuritides, optic
neuritis optic
neuritis, optic
on - optic neuritis
optic neuritides
optic neuritis (disorder)
optic neuritis [disease/finding]
optic neuritis [dup] (disorder)
optic neuritis nos
optic neuritis nos (disorder)
optic neuritis, nos
optic neuritis, unspecified
unspecified optic neuritis
unspecified optic neuritis (disorder)
DOID
ICD10
UMLS
C0029134
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:74)
C0026769  |  multiple sclerosis  |  35
C0027873  |  neuromyelitis optica  |  8
C0011303  |  demyelinating disease  |  5
C0456909  |  blindness  |  4
C0019158  |  hepatitis  |  3
C0029124  |  optic atrophy  |  3
C0392662  |  angiostrongyliasis  |  3
C0014070  |  encephalomyelitis  |  3
C0024141  |  systemic lupus erythematosus  |  2
C0034362  |  q fever  |  2
C0026975  |  myelitis  |  2
C0456909  |  vision loss  |  2
C0021400  |  influenza  |  2
C1527336  |  sjogren's syndrome  |  2
C0019163  |  hepatitis b  |  2
C0038522  |  subacute sclerosing panencephalitis  |  1
C0004943  |  behcet's syndrome  |  1
C0547030  |  visual disturbances  |  1
C0036472  |  scrub typhus  |  1
C0751304  |  parasagittal meningioma  |  1
C0014038  |  encephalitis  |  1
C0547030  |  visual disturbance  |  1
C0023343  |  leprosy  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0007570  |  celiac disease  |  1
C0041296  |  tuberculosis  |  1
C0030353  |  papilloedema  |  1
C0024419  |  macroglobulinemia  |  1
C0019360  |  herpes zoster  |  1
C0042870  |  vitamin d defic  |  1
C0271051  |  macular oedema  |  1
C0220754  |  biotinidase deficiency  |  1
C0035333  |  retinitis  |  1
C0025297  |  viral meningitis  |  1
C0014059  |  acute disseminated encephalomyelitis  |  1
C0206178  |  cytomegalovirus retinitis  |  1
C0334121  |  inflammatory pseudotumor  |  1
C0042721  |  viral hepatitis  |  1
C0024440  |  cystoid macular oedema  |  1
C0014544  |  epilepsy  |  1
C0033953  |  sexual dysfunction  |  1
C0011303  |  demyelinating disorders  |  1
C0032285  |  pneumoniae  |  1
C0007959  |  charcot-marie-tooth disease  |  1
C0019364  |  herpes zoster ophthalmicus  |  1
C0038522  |  subacute sclerosing panencephalitis (sspe)  |  1
C1704214  |  xanthogranuloma  |  1
C0025286  |  meningioma  |  1
C0004943  |  behcet's disease  |  1
C0010346  |  crohn's disease  |  1
C0013990  |  emphysema  |  1
C0021053  |  immune disease  |  1
C0004134  |  ataxia  |  1
C0025289  |  meningitis  |  1
C0271051  |  macular edema  |  1
C0024419  |  waldenstrom macroglobulinemia  |  1
C0039128  |  syphilis  |  1
C0017922  |  gsd iii  |  1
C0036454  |  visual field defect  |  1
C0043324  |  juvenile xanthogranuloma  |  1
C0042384  |  vasculitis  |  1
C0029089  |  ophthalmoplegia  |  1
C0243010  |  viral encephalitis  |  1
C0553662  |  juvenile idiopathic arthritis  |  1
C0043092  |  wegener's granulomatosis  |  1
C0025309  |  meningoencephalitis  |  1
C0270911  |  charcot-marie-tooth disease type 1a  |  1
C0040128  |  thyroid disease  |  1
C0042164  |  uveitis  |  1
C0008049  |  chicken pox  |  1
C0026896  |  myasthenia gravis  |  1
C0032001  |  pituitary apoplexy  |  1
C0409974  |  lupus erythematosus  |  1
C0011303  |  demyelinating diseases  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
823  |  CAPN1  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:72)
56  |  ACRV1  |  1.271  |  DISEASES
199  |  AIF1  |  1.845  |  DISEASES
273  |  AMPH  |  2.131  |  DISEASES
361  |  AQP4  |  7.596  |  DISEASES
8874  |  ARHGEF7  |  1.32  |  DISEASES
627  |  BDNF  |  1.201  |  DISEASES
831  |  CAST  |  1.625  |  DISEASES
930  |  CD19  |  1.291  |  DISEASES
959  |  CD40LG  |  2.95  |  DISEASES
1043  |  CD52  |  1.07  |  DISEASES
1041  |  CDSN  |  1.277  |  DISEASES
1117  |  CHI3L2  |  1.954  |  DISEASES
1270  |  CNTF  |  2.122  |  DISEASES
1351  |  COX8A  |  2.156  |  DISEASES
9547  |  CXCL14  |  1.699  |  DISEASES
2833  |  CXCR3  |  1.648  |  DISEASES
51428  |  DDX41  |  3.2  |  DISEASES
1896  |  EDA  |  1.786  |  DISEASES
30845  |  EHD3  |  2.007  |  DISEASES
2189  |  FANCG  |  1.536  |  DISEASES
50943  |  FOXP3  |  1.338  |  DISEASES
2687  |  GGT5  |  2.05  |  DISEASES
23493  |  HEY2  |  1.055  |  DISEASES
3115  |  HLA-DPB1  |  1.331  |  DISEASES
3123  |  HLA-DRB1  |  1.747  |  DISEASES
3127  |  HLA-DRB5  |  2.666  |  DISEASES
3339  |  HSPG2  |  1.53  |  DISEASES
3456  |  IFNB1  |  4.522  |  DISEASES
3547  |  IGSF1  |  1.782  |  DISEASES
3586  |  IL10  |  1.605  |  DISEASES
3605  |  IL17A  |  1.252  |  DISEASES
102723508  |  KANTR  |  1.402  |  DISEASES
81033  |  KCNH6  |  1.906  |  DISEASES
374654  |  KIF7  |  1.67  |  DISEASES
84894  |  LINGO1  |  3.652  |  DISEASES
348801  |  LNP1  |  1.888  |  DISEASES
4049  |  LTA  |  1.448  |  DISEASES
4099  |  MAG  |  2.636  |  DISEASES
4155  |  MBP  |  5.202  |  DISEASES
142678  |  MIB2  |  2.135  |  DISEASES
4318  |  MMP9  |  1.334  |  DISEASES
4336  |  MOBP  |  1.773  |  DISEASES
4340  |  MOG  |  6.362  |  DISEASES
8898  |  MTMR2  |  1.23  |  DISEASES
4536  |  MT-ND2  |  1.213  |  DISEASES
4538  |  MT-ND4  |  4.624  |  DISEASES
4540  |  MT-ND5  |  1.12  |  DISEASES
4795  |  NFKBIL1  |  1.521  |  DISEASES
4942  |  OAT  |  1.201  |  DISEASES
8481  |  OFD1  |  1.298  |  DISEASES
5091  |  PC  |  1.695  |  DISEASES
10687  |  PNMA2  |  1.984  |  DISEASES
5457  |  POU4F1  |  3.735  |  DISEASES
5542  |  PRB1  |  2.611  |  DISEASES
5562  |  PRKAA1  |  1.313  |  DISEASES
5730  |  PTGDS  |  1.592  |  DISEASES
5996  |  RGS1  |  1.221  |  DISEASES
6295  |  SAG  |  1.627  |  DISEASES
5275  |  SERPINB13  |  1.869  |  DISEASES
3177  |  SLC29A2  |  1.222  |  DISEASES
9301  |  SNORD27  |  1.959  |  DISEASES
6649  |  SOD3  |  1.606  |  DISEASES
6656  |  SOX1  |  1.044  |  DISEASES
6668  |  SP2  |  1.278  |  DISEASES
6696  |  SPP1  |  1.892  |  DISEASES
55576  |  STAB2  |  1.064  |  DISEASES
342898  |  SYCN  |  1.838  |  DISEASES
7124  |  TNF  |  2.709  |  DISEASES
7133  |  TNFRSF1B  |  2.521  |  DISEASES
8266  |  UBL4A  |  4.237  |  DISEASES
134430  |  WDR36  |  1.169  |  DISEASES
84107  |  ZIC4  |  1.829  |  DISEASES
Locus(Waiting for update.)
Disease ID 957
Disease optic neuritis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:48)
HP:0000572  |  Visual loss  |  10
HP:0011096  |  Demyelination  |  5
HP:0000618  |  Blindness  |  4
HP:0002633  |  Vasculitis  |  3
HP:0000648  |  Optic-nerve degeneration  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0012486  |  Inflammation of spinal cord  |  2
HP:0000505  |  Poor vision  |  2
HP:0003447  |  Axonal loss  |  2
HP:0002180  |  Neurodegeneration  |  2
HP:0001123  |  Partial loss of field of vision  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0000603  |  Central scotomata  |  2
HP:0002725  |  Systemic lupus erythematosus  |  2
HP:0001945  |  Fever  |  2
HP:0040049  |  Macular edema  |  2
HP:0000554  |  Uveitis  |  1
HP:0002529  |  Neuronal loss in central nervous system  |  1
HP:0005681  |  Juvenile idiopathic arthritis  |  1
HP:0000969  |  Dropsy  |  1
HP:0006562  |  Viral hepatitis  |  1
HP:0007824  |  Total ophthalmoplegia  |  1
HP:0002664  |  Neoplasia  |  1
HP:0100246  |  Osteoma  |  1
HP:0002597  |  Abnormality of blood vessels  |  1
HP:0100561  |  Spinal cord lesion  |  1
HP:0000602  |  Ophthalmoplegia  |  1
HP:0002383  |  Encephalitis  |  1
HP:0002097  |  Pulmonary emphysema  |  1
HP:0005508  |  Waldenstrom macroglobulinemia  |  1
HP:0007663  |  Central visual loss  |  1
HP:0011505  |  Cystoid macular edema  |  1
HP:0030585  |  Red desaturation  |  1
HP:0000529  |  Slowly progressive visual loss  |  1
HP:0002858  |  Mengiomia  |  1
HP:0000575  |  Scotoma  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0005318  |  Cerebral vasculitis  |  1
HP:0001251  |  Ataxia  |  1
HP:0000970  |  Lack of sweating  |  1
HP:0012531  |  Pain  |  1
HP:0030528  |  Paracentral scotoma  |  1
HP:0002608  |  Celiac disease  |  1
HP:0001287  |  Meningitis  |  1
HP:0000820  |  Thyroid abnormality  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0040078  |  Axonal degeneration  |  1
Disease ID 957
Disease optic neuritis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:18)
C2598155  |  pain
C1868685  |  disseminated sclerosis
C1417325  |  multiple sclerosis
C1290884  |  inflammatory disease
C0948402  |  hypertrophic pachymeningitis
C0858618  |  dyschromatopsia
C0852416  |  pupillary signs
C0520998  |  phosphenes
C0456909  |  blindness
C0235272  |  retinal damage
C0234131  |  motor dysfunction
C0162293  |  papillitis
C0155288  |  papilledema
C0036454  |  visual field defects
C0036454  |  scotomas
C0029440  |  osteoma
C0026896  |  myasthenia gravis
C0007682  |  disease of the central nervous system
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:10)
C0026769  |  multiple sclerosis  |  35
C0456909  |  blindness  |  4
C1290884  |  inflammatory disease  |  3
C0036454  |  visual field defects  |  1
C0030193  |  pain  |  1
C0948402  |  hypertrophic pachymeningitis  |  1
C0234131  |  motor dysfunction  |  1
C0029440  |  osteoma  |  1
C0026896  |  myasthenia gravis  |  1
C0007682  |  disease of the central nervous system  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 957
Disease optic neuritis
Case(Waiting for update.)